ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71223901A>G
CA255248
GJB1
c.194A>G (p.Tyr65Cys)
ClinVar
dbSNP
X
g.71223901A>C
CA413501371
GJB1
c.194A>C (p.Tyr65Ser)
ClinVar
dbSNP
Number of alleles fetched
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